معرفی
Elizabeth M. Berry-Kravis, MD, PhD is a Professor at Rush Medical College, affiliated with the Department of Pediatrics at Rush University. Her research focuses on molecular genetics, particularly in fragile X syndrome, FXTAS, and PHOX2B-related disorders such as congenital central hypoventilation syndrome (CCHS) and sudden infant death syndrome (SIDS).
- Institution: Rush University Medical Center
- Lab Location: Jelke Building, Room 1565, 1750 W. Harrison St., Chicago, IL 60612
Research Interests: Dr. Berry-Kravis investigates molecular-phenotype relationships in genetic disorders, including:
- FMR1 DNA testing and methylation studies
- Role of FMRP, FMR1 mRNA, and AGG interruptions in fragile X disorders
- PHOX2B mutations in CCHS and SIDS
- Biomarkers for cellular function in FMR1 expansions
Publications Overview: Her work spans molecular genetics, neurodevelopmental disorders, and respiratory medicine, with a focus on fragile X-associated disorders, neurogenetics, and genetic testing methodologies. She employs techniques like transgenic models and epigenetic analysis to study disease mechanisms.
- Key Collaborations: Lili Zhou, MD (co-author in multiple studies)
- Labs: Leads the Laboratory of Elizabeth Berry-Kravis at Rush University Medical Center
